Incidental Mutation 'R1752:Slit3'
ID 193638
Institutional Source Beutler Lab
Gene Symbol Slit3
Ensembl Gene ENSMUSG00000056427
Gene Name slit guidance ligand 3
Synonyms Slit1, b2b2362.1Clo
MMRRC Submission 039784-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.897) question?
Stock # R1752 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 35012283-35599334 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 35455480 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 196 (I196F)
Ref Sequence ENSEMBL: ENSMUSP00000066857 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069837]
AlphaFold Q9WVB4
Predicted Effect probably damaging
Transcript: ENSMUST00000069837
AA Change: I196F

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000066857
Gene: ENSMUSG00000056427
AA Change: I196F

DomainStartEndE-ValueType
low complexity region 2 23 N/A INTRINSIC
LRRNT 33 65 2.12e-8 SMART
LRR 59 83 1.37e2 SMART
LRR_TYP 84 107 1.12e-3 SMART
LRR_TYP 108 131 7.78e-3 SMART
LRR_TYP 132 155 5.42e-2 SMART
LRR 156 179 5.88e0 SMART
LRR 180 203 7.55e-1 SMART
LRRCT 215 264 1.33e-6 SMART
LRRNT 279 311 6.79e-7 SMART
LRR 305 329 1.16e2 SMART
LRR 330 353 1.26e1 SMART
LRR_TYP 354 377 2.79e-4 SMART
LRR 378 401 4.05e-1 SMART
LRR 402 425 4.05e-1 SMART
LRRCT 437 486 7.75e-8 SMART
LRRNT 504 536 1.95e-7 SMART
LRR_TYP 556 579 7.49e-5 SMART
LRR 581 603 6.41e1 SMART
LRR_TYP 604 627 2.53e-2 SMART
LRR 628 651 1.76e-1 SMART
LRRCT 663 712 2.52e-7 SMART
LRRNT 724 756 3e-8 SMART
LRR 774 797 2.14e0 SMART
LRR_TYP 798 821 2.95e-3 SMART
LRR_TYP 822 845 2.43e-4 SMART
LRRCT 857 906 1.12e-13 SMART
EGF 919 953 6.86e-4 SMART
EGF 958 994 8.84e-7 SMART
EGF 999 1032 1.13e-4 SMART
EGF 1037 1072 2.3e-5 SMART
EGF_CA 1074 1110 5.92e-8 SMART
EGF 1122 1155 3.79e-6 SMART
LamG 1178 1314 3.16e-34 SMART
EGF 1331 1365 2.19e-2 SMART
EGF 1371 1403 1.13e-4 SMART
EGF 1411 1444 5.57e-4 SMART
CT 1455 1523 4.56e-5 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124438
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.2%
  • 20x: 92.3%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is secreted, likely interacting with roundabout homolog receptors to effect cell migration. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2012]
PHENOTYPE: Mice homozygous for a gene trap allele show congenital diaphragmatic hernia (CDH), variable renal defects and enlarged heart right ventricles. Mice homozygous for either of two reporter alleles show diaphragm dysgenesis and die prematurely; those with end-stage CDH show dyspnea and lung congestion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,842,468 (GRCm39) V1134A probably benign Het
Accsl C T 2: 93,688,375 (GRCm39) G420S probably damaging Het
Adam29 A G 8: 56,325,309 (GRCm39) S382P probably damaging Het
Apob T C 12: 8,038,766 (GRCm39) L393P probably benign Het
Arhgef19 T G 4: 140,978,354 (GRCm39) S616A probably benign Het
Atp11a C T 8: 12,863,094 (GRCm39) T91I probably damaging Het
Ccdc88b C T 19: 6,830,690 (GRCm39) V751I probably benign Het
Ccni T C 5: 93,350,315 (GRCm39) probably benign Het
Cd2 G A 3: 101,183,511 (GRCm39) A266V probably benign Het
Cd33 T C 7: 43,181,722 (GRCm39) D146G probably benign Het
Cdh16 A G 8: 105,346,505 (GRCm39) probably null Het
Chd1 T C 17: 15,963,494 (GRCm39) probably null Het
Chd5 A T 4: 152,459,590 (GRCm39) I1109F probably damaging Het
Cir1 T C 2: 73,140,882 (GRCm39) E29G probably damaging Het
Clec5a T C 6: 40,559,187 (GRCm39) T66A probably damaging Het
Cpa2 A G 6: 30,552,023 (GRCm39) D250G probably damaging Het
Crybg2 T A 4: 133,800,961 (GRCm39) L707H probably damaging Het
Csmd3 T C 15: 47,523,669 (GRCm39) T2646A probably benign Het
Cul7 G A 17: 46,964,093 (GRCm39) R390Q probably benign Het
Cyp2c69 T A 19: 39,869,597 (GRCm39) I141F probably damaging Het
Dapk2 C G 9: 66,127,925 (GRCm39) R68G probably damaging Het
Dclk2 C T 3: 86,713,434 (GRCm39) V470I possibly damaging Het
Dixdc1 A G 9: 50,593,850 (GRCm39) V530A probably benign Het
Dock7 A G 4: 98,854,681 (GRCm39) F1528L probably damaging Het
Edn1 T A 13: 42,457,075 (GRCm39) V36E possibly damaging Het
Eng T C 2: 32,563,404 (GRCm39) V319A probably benign Het
Epb41l2 A G 10: 25,336,690 (GRCm39) K229E probably damaging Het
Fam184a T C 10: 53,550,666 (GRCm39) N698S probably benign Het
Fndc7 T C 3: 108,776,646 (GRCm39) N465S probably benign Het
Fstl4 T C 11: 53,077,622 (GRCm39) V793A probably benign Het
Gm9797 A T 10: 11,485,287 (GRCm39) noncoding transcript Het
Hsd17b4 T C 18: 50,303,834 (GRCm39) S436P probably benign Het
Itsn2 T G 12: 4,761,950 (GRCm39) probably null Het
Kank3 T C 17: 34,038,791 (GRCm39) V570A probably damaging Het
Kif13a A T 13: 46,951,885 (GRCm39) F733Y probably damaging Het
Kif16b G T 2: 142,532,586 (GRCm39) D1184E probably benign Het
Kif20a A G 18: 34,764,634 (GRCm39) D727G possibly damaging Het
Kif20b T A 19: 34,915,736 (GRCm39) S504R probably benign Het
Lrrc37 T C 11: 103,505,381 (GRCm39) T2196A possibly damaging Het
Ltbp3 C A 19: 5,795,685 (GRCm39) H180Q probably benign Het
Luzp2 T C 7: 54,914,088 (GRCm39) S306P possibly damaging Het
Macf1 T C 4: 123,377,465 (GRCm39) I1490V possibly damaging Het
Manba T A 3: 135,212,706 (GRCm39) W72R probably damaging Het
Mast1 A G 8: 85,651,965 (GRCm39) V339A probably benign Het
Mnx1 A G 5: 29,682,727 (GRCm39) S183P unknown Het
Muc5b T G 7: 141,421,488 (GRCm39) L4326R possibly damaging Het
Myb T C 10: 21,032,336 (GRCm39) D15G possibly damaging Het
Ncapg2 A T 12: 116,390,338 (GRCm39) D429V probably damaging Het
Neurod6 A G 6: 55,656,511 (GRCm39) V42A probably benign Het
Nfxl1 A T 5: 72,698,218 (GRCm39) C276S probably damaging Het
Nptx2 C A 5: 144,492,171 (GRCm39) T316N probably damaging Het
Nrp2 T A 1: 62,777,600 (GRCm39) F135Y probably damaging Het
Nxpe3 A T 16: 55,686,837 (GRCm39) F57Y probably benign Het
Or4c109 C A 2: 88,817,659 (GRCm39) A296S possibly damaging Het
Or51ag1 T A 7: 103,155,765 (GRCm39) R129S probably benign Het
Osbpl11 T C 16: 33,025,205 (GRCm39) Y144H probably damaging Het
Pax5 T C 4: 44,609,729 (GRCm39) Y233C probably damaging Het
Pck1 A G 2: 172,998,906 (GRCm39) N388S probably benign Het
Plcd3 T A 11: 102,971,085 (GRCm39) Q157L probably benign Het
Pnma2 A C 14: 67,153,785 (GRCm39) M70L probably benign Het
Pogk T C 1: 166,235,997 (GRCm39) K35E probably damaging Het
Ptprb T A 10: 116,176,895 (GRCm39) V1227E probably benign Het
Pygm T A 19: 6,441,064 (GRCm39) V450E probably damaging Het
Rb1 T A 14: 73,525,064 (GRCm39) I190F probably damaging Het
Setd2 T A 9: 110,423,673 (GRCm39) Y2243N probably damaging Het
Slc11a2 A T 15: 100,303,687 (GRCm39) L182Q probably damaging Het
Slc45a3 T C 1: 131,905,259 (GRCm39) L94P probably damaging Het
Slc9a4 T C 1: 40,668,421 (GRCm39) F688S probably benign Het
Sprn G A 7: 139,733,408 (GRCm39) probably benign Het
Spsb2 A G 6: 124,787,292 (GRCm39) D242G probably benign Het
Srpk2 A G 5: 23,733,017 (GRCm39) I111T probably damaging Het
St8sia4 T A 1: 95,519,537 (GRCm39) Y317F probably benign Het
Stat5a T A 11: 100,774,884 (GRCm39) *798K probably null Het
Sult1c2 C T 17: 54,271,777 (GRCm39) V137M possibly damaging Het
Synj1 T C 16: 90,735,361 (GRCm39) T1531A probably benign Het
Tasor T A 14: 27,193,885 (GRCm39) Y1028* probably null Het
Tax1bp1 A G 6: 52,698,398 (GRCm39) T37A probably damaging Het
Tet1 T A 10: 62,648,768 (GRCm39) D1888V probably damaging Het
Tln1 T C 4: 43,536,311 (GRCm39) T1994A probably damaging Het
Tmco3 A C 8: 13,341,741 (GRCm39) D5A probably benign Het
Tnk1 T A 11: 69,747,532 (GRCm39) N74I possibly damaging Het
Ttc16 A T 2: 32,662,162 (GRCm39) S120T probably damaging Het
Ttn A G 2: 76,594,606 (GRCm39) V20480A probably damaging Het
Ttn T A 2: 76,774,448 (GRCm39) T2153S probably damaging Het
Usp4 T C 9: 108,251,441 (GRCm39) Y539H probably damaging Het
Zar1 A C 5: 72,734,715 (GRCm39) V168G probably damaging Het
Zcchc9 T C 13: 91,953,899 (GRCm39) K119E possibly damaging Het
Zfp251 T C 15: 76,737,863 (GRCm39) N410S possibly damaging Het
Zfp605 A T 5: 110,271,639 (GRCm39) D10V probably damaging Het
Zyg11a A T 4: 108,062,479 (GRCm39) N107K possibly damaging Het
Other mutations in Slit3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00731:Slit3 APN 11 35,512,981 (GRCm39) missense probably damaging 1.00
IGL01324:Slit3 APN 11 35,501,529 (GRCm39) missense probably damaging 1.00
IGL01612:Slit3 APN 11 35,591,211 (GRCm39) missense possibly damaging 0.95
IGL02145:Slit3 APN 11 35,520,569 (GRCm39) missense probably damaging 0.99
IGL02146:Slit3 APN 11 35,125,675 (GRCm39) missense possibly damaging 0.71
IGL02430:Slit3 APN 11 35,068,601 (GRCm39) splice site probably null
IGL02528:Slit3 APN 11 35,469,801 (GRCm39) missense probably benign
IGL02530:Slit3 APN 11 35,598,969 (GRCm39) makesense probably null
IGL02640:Slit3 APN 11 35,591,172 (GRCm39) missense probably benign 0.10
IGL02819:Slit3 APN 11 35,062,417 (GRCm39) missense possibly damaging 0.71
IGL02839:Slit3 APN 11 35,539,874 (GRCm39) missense possibly damaging 0.46
IGL03150:Slit3 APN 11 35,399,084 (GRCm39) missense possibly damaging 0.88
IGL03161:Slit3 APN 11 35,591,241 (GRCm39) missense probably benign 0.10
IGL03336:Slit3 APN 11 35,560,928 (GRCm39) missense probably damaging 0.97
Bloated UTSW 11 35,524,779 (GRCm39) missense possibly damaging 0.55
Quellung UTSW 11 35,542,647 (GRCm39) critical splice donor site probably null
IGL02988:Slit3 UTSW 11 35,598,890 (GRCm39) missense probably damaging 0.99
PIT4791001:Slit3 UTSW 11 35,552,072 (GRCm39) missense possibly damaging 0.85
R0013:Slit3 UTSW 11 35,598,745 (GRCm39) missense probably benign
R0013:Slit3 UTSW 11 35,598,745 (GRCm39) missense probably benign
R0334:Slit3 UTSW 11 35,469,928 (GRCm39) missense probably damaging 0.97
R0385:Slit3 UTSW 11 35,591,109 (GRCm39) missense probably damaging 0.98
R0840:Slit3 UTSW 11 35,514,263 (GRCm39) splice site probably benign
R1065:Slit3 UTSW 11 35,012,462 (GRCm39) missense possibly damaging 0.86
R1364:Slit3 UTSW 11 35,560,934 (GRCm39) missense probably benign
R1476:Slit3 UTSW 11 35,577,126 (GRCm39) missense probably damaging 0.97
R1508:Slit3 UTSW 11 35,461,448 (GRCm39) missense probably damaging 1.00
R1665:Slit3 UTSW 11 35,125,733 (GRCm39) missense possibly damaging 0.71
R1692:Slit3 UTSW 11 35,550,171 (GRCm39) missense probably damaging 1.00
R1696:Slit3 UTSW 11 35,566,750 (GRCm39) missense probably damaging 0.99
R1727:Slit3 UTSW 11 35,520,659 (GRCm39) missense probably damaging 1.00
R1970:Slit3 UTSW 11 35,521,668 (GRCm39) critical splice acceptor site probably null
R2077:Slit3 UTSW 11 35,435,575 (GRCm39) missense possibly damaging 0.88
R2126:Slit3 UTSW 11 35,579,506 (GRCm39) missense probably damaging 1.00
R2143:Slit3 UTSW 11 35,503,088 (GRCm39) splice site probably null
R2162:Slit3 UTSW 11 35,579,509 (GRCm39) missense probably null 1.00
R2873:Slit3 UTSW 11 35,435,620 (GRCm39) nonsense probably null
R3813:Slit3 UTSW 11 35,566,806 (GRCm39) missense probably damaging 1.00
R3831:Slit3 UTSW 11 35,579,509 (GRCm39) missense probably null 1.00
R3832:Slit3 UTSW 11 35,579,509 (GRCm39) missense probably null 1.00
R3833:Slit3 UTSW 11 35,579,509 (GRCm39) missense probably null 1.00
R3839:Slit3 UTSW 11 35,399,064 (GRCm39) missense probably benign 0.10
R4152:Slit3 UTSW 11 35,589,147 (GRCm39) missense probably damaging 0.98
R4387:Slit3 UTSW 11 35,574,875 (GRCm39) missense probably benign 0.12
R4795:Slit3 UTSW 11 35,542,647 (GRCm39) critical splice donor site probably null
R4910:Slit3 UTSW 11 35,523,549 (GRCm39) missense probably damaging 0.99
R4933:Slit3 UTSW 11 35,579,420 (GRCm39) missense probably damaging 1.00
R5048:Slit3 UTSW 11 35,479,812 (GRCm39) missense probably damaging 1.00
R5106:Slit3 UTSW 11 35,503,194 (GRCm39) missense probably damaging 1.00
R5138:Slit3 UTSW 11 35,479,812 (GRCm39) missense probably damaging 1.00
R5218:Slit3 UTSW 11 35,575,002 (GRCm39) critical splice donor site probably null
R5338:Slit3 UTSW 11 35,512,975 (GRCm39) missense probably benign
R5354:Slit3 UTSW 11 35,566,740 (GRCm39) missense probably damaging 1.00
R5436:Slit3 UTSW 11 35,598,738 (GRCm39) missense probably benign 0.05
R5896:Slit3 UTSW 11 35,598,932 (GRCm39) missense probably damaging 0.99
R5933:Slit3 UTSW 11 35,520,578 (GRCm39) missense probably benign 0.04
R5963:Slit3 UTSW 11 35,591,063 (GRCm39) missense probably damaging 1.00
R5964:Slit3 UTSW 11 35,591,063 (GRCm39) missense probably damaging 1.00
R6125:Slit3 UTSW 11 35,461,560 (GRCm39) critical splice donor site probably null
R6153:Slit3 UTSW 11 35,591,310 (GRCm39) missense possibly damaging 0.69
R6484:Slit3 UTSW 11 35,552,125 (GRCm39) missense probably benign
R6526:Slit3 UTSW 11 35,552,119 (GRCm39) missense probably benign 0.33
R6797:Slit3 UTSW 11 35,524,779 (GRCm39) missense possibly damaging 0.55
R6887:Slit3 UTSW 11 35,435,633 (GRCm39) splice site probably null
R7067:Slit3 UTSW 11 35,399,057 (GRCm39) missense probably benign 0.04
R7150:Slit3 UTSW 11 35,461,546 (GRCm39) missense probably damaging 1.00
R7228:Slit3 UTSW 11 35,490,245 (GRCm39) missense probably damaging 1.00
R7232:Slit3 UTSW 11 35,501,516 (GRCm39) missense possibly damaging 0.87
R7418:Slit3 UTSW 11 35,577,255 (GRCm39) missense possibly damaging 0.64
R7545:Slit3 UTSW 11 35,591,139 (GRCm39) missense possibly damaging 0.52
R7727:Slit3 UTSW 11 35,574,871 (GRCm39) missense probably damaging 1.00
R7820:Slit3 UTSW 11 35,591,235 (GRCm39) missense probably benign 0.23
R8177:Slit3 UTSW 11 35,469,919 (GRCm39) missense probably damaging 0.99
R8179:Slit3 UTSW 11 35,554,903 (GRCm39) missense probably benign 0.31
R8416:Slit3 UTSW 11 35,399,062 (GRCm39) missense probably benign 0.08
R8417:Slit3 UTSW 11 35,501,438 (GRCm39) missense probably damaging 0.99
R8476:Slit3 UTSW 11 35,520,596 (GRCm39) missense possibly damaging 0.70
R8785:Slit3 UTSW 11 35,560,968 (GRCm39) missense probably damaging 0.98
R8955:Slit3 UTSW 11 35,589,207 (GRCm39) missense probably damaging 0.97
R9040:Slit3 UTSW 11 35,594,136 (GRCm39) missense probably damaging 0.98
R9068:Slit3 UTSW 11 35,574,917 (GRCm39) missense probably damaging 1.00
R9088:Slit3 UTSW 11 35,012,463 (GRCm39) missense possibly damaging 0.86
R9266:Slit3 UTSW 11 35,598,808 (GRCm39) missense probably damaging 0.98
R9539:Slit3 UTSW 11 35,589,155 (GRCm39) nonsense probably null
R9636:Slit3 UTSW 11 35,594,088 (GRCm39) missense probably damaging 0.97
X0028:Slit3 UTSW 11 35,455,464 (GRCm39) missense probably damaging 0.99
Z1176:Slit3 UTSW 11 35,598,751 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- TGTAATGAGCCACCCAACGCAG -3'
(R):5'- CAGCTAGGAAGCATGGATGAACCAC -3'

Sequencing Primer
(F):5'- ACAGGAATGTGGATTCCCCATC -3'
(R):5'- AATATGGGAACTGTGTGCCCATC -3'
Posted On 2014-05-23